Table 2 Overview on the patients with chromosome 7 disturbances included in this study, and the analysed tissues and conducted tests
Patients | GRB10Del | UPD7M | UPD7qM | GRB10GOM |
|---|---|---|---|---|
Molecular disturbance | Deletion in GRB10 | Maternal UPD of whole chromosome 7 | Maternal UPD of chromosome 7qter, LOM of MEG3:TSS DMR | GOM of GRB10:alt-TSS DMR and 20q13 deletion |
Number | 2 (twins) | 3 | 1 | 1 |
tissue for DNA testing | blood | blood | fibroblasts | blood |
DNA tests | (MS-)MLPA CytoScan™ HD Array GS | MS-MLPA | MS-MLPA | MS-MLPA CytoScan™ HD Array GS |
Tissue for RNA analysis | blood | fibroblasts | fibroblasts | NA |
RNA assays | RNAseq | RNAseq (triplicates) qPCR (triplicates) | RNAseq (triplicates) qPCR (triplicates) | NA |